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    ANO5 anoctamin 5 [ Homo sapiens (human) ]

    Gene ID: 203859, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ANO5provided by HGNC
    Official Full Name
    anoctamin 5provided by HGNC
    Primary source
    HGNC:HGNC:27337
    See related
    Ensembl:ENSG00000171714 MIM:608662; AllianceGenome:HGNC:27337
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDD1; LGMD2L; LGMDR12; TMEM16E
    Summary
    This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
    Expression
    Broad expression in heart (RPKM 10.4), brain (RPKM 3.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p14.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (22192473..22283357)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (22313008..22403882)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22214631..22304903)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723370 Neighboring gene uncharacterized LOC105376587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:22042648-22043247 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20715 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:22086967-22087603 Neighboring gene uncharacterized LOC124902645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4532 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:22255998-22256992 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:22306158-22307357 Neighboring gene SLC17A6 divergent transcript Neighboring gene solute carrier family 17 member 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer. Fukami T, et al. World J Gastroenterol, 2022 Aug 28. PMID 36157935, Free PMC Article
    2. Muscle biopsy and MRI findings in ANO5-related myopathy. Holm-Yildiz S, et al. Muscle Nerve, 2021 Dec. PMID 34550615
    3. Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency. Khawajazada T, et al. Eur J Neurol, 2021 Sep. PMID 34145687
    4. Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy. Mavillard F, et al. Clin Genet, 2021 Jul. PMID 33818761
    5. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations. Vázquez J, et al. J Neuromuscul Dis, 2020. PMID 32925086

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
      Title: Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
    2. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
      Title: Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
    3. Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.
      Title: Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.
    4. Muscle biopsy and MRI findings in ANO5-related myopathy.
      Title: Muscle biopsy and MRI findings in ANO5-related myopathy.
    5. Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
      Title: Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
    6. TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
      Title: TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
    7. Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency.
      Title: Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency.
    8. ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
      Title: ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
    9. ANO5 ensures trafficking of annexins in wounded myofibers.
      Title: ANO5 ensures trafficking of annexins in wounded myofibers.
    10. Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
      Title: Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables intracellularly calcium-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables intracellularly calcium-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables intracellularly calcium-gated chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in plasma membrane repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    anoctamin-5
    Names
    gnathodiaphyseal dysplasia 1 protein
    integral membrane protein GDD1
    transmembrane protein 16E

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015844.1 RefSeqGene

      Range
      5001..95192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_868

    mRNA and Protein(s)

    1. NM_001142649.2 → NP_001136121.1  anoctamin-5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AB125267, AC104009, AC107886, AK125046, AL832374, AL833271, BU742779
      UniProtKB/TrEMBL
      A0A804HJT6
      Conserved Domains (2) summary
      pfam04547
      Location:291 → 868
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:71 → 288
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    2. NM_001410963.1 → NP_001397892.1  anoctamin-5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC104009, AC107886
      Consensus CDS
      CCDS91450.1
      UniProtKB/TrEMBL
      A0A804HL91
      Related
      ENSP00000508251.1, ENST00000682341.1

    3. NM_001410964.1 → NP_001397893.1  anoctamin-5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC104009, AC107886
      Consensus CDS
      CCDS91451.1
      UniProtKB/TrEMBL
      A0A804HKP2
      Related
      ENSP00000508009.1, ENST00000684663.1

    4. NM_213599.3 → NP_998764.1  anoctamin-5 isoform a

      See identical proteins and their annotated locations for NP_998764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB125267, AC104009, AC107886, AK125046, AL833271, BU742779
      Consensus CDS
      CCDS31444.1
      UniProtKB/Swiss-Prot
      Q75V66
      UniProtKB/TrEMBL
      A0A804HJT6
      Related
      ENSP00000315371.9, ENST00000324559.9
      Conserved Domains (2) summary
      pfam04547
      Location:292 → 868
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:72 → 289
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      22192473..22283357
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252822.5 → XP_005252879.1  anoctamin-5 isoform X1

      UniProtKB/TrEMBL
      A0A804HLK6
      Conserved Domains (2) summary
      pfam04547
      Location:266 → 843
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:46 → 263
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    2. XM_047426522.1 → XP_047282478.1  anoctamin-5 isoform X2

    3. XM_011519949.3 → XP_011518251.1  anoctamin-5 isoform X3

      UniProtKB/TrEMBL
      A0A804HLK6
      Related
      ENSP00000508408.1, ENST00000683437.1
      Conserved Domains (2) summary
      pfam04547
      Location:261 → 838
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:41 → 258
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      22313008..22403882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367965.1 → XP_054223940.1  anoctamin-5 isoform X1

    2. XM_054367966.1 → XP_054223941.1  anoctamin-5 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q75V66.1 GenPept UniProtKB/Swiss-Prot:Q75V66

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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